Canonical Allele Identifier: CA575817133

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 767560
• ClinVar RCV Id: RCV000946332
• dbSNP Id: rs372840645
• gnomAD v2: 7-83036565-C-A
• gnomAD v3: 7-83407249-C-A
• gnomAD v4: 7-83407249-C-A
• MyVariant Identifiers: chr7:g.83036565C>A (hg19) ; chr7:g.83407249C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407249C>A , CM000669.2:g.83407249C>A	GRCh38
NC_000007.13:g.83036565C>A , CM000669.1:g.83036565C>A	GRCh37
NC_000007.12:g.82874501C>A	NCBI36
NG_021242.1:g.246915G>T
NG_021242.2:g.246915G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.491-10G>T	ENSP00000405052.1:n.491-10G>T
ENST00000642232.1:c.671-10G>T	ENSP00000494064.1:n.671-10G>T
ENST00000643230.2:c.671-10G>T MANE Select	ENSP00000496491.1:n.671-10G>T
ENST00000643441.1:n.656-10G>T
ENST00000644381.1:n.234-10G>T
ENST00000307792.7:c.671-10G>T	ENSP00000303212.3:n.671-10G>T
ENST00000427262.5:c.491-10G>T	ENSP00000405052.1:n.491-10G>T
NM_001178129.1:c.491-10G>T	NP_001171600.1:n.491-10G>T
NM_012431.2:c.671-10G>T	NP_036563.1:n.671-10G>T
XM_011516715.1:c.671-10G>T	XP_011515017.1:n.671-10G>T
NM_012431.3:c.671-10G>T MANE Select	NP_036563.1:n.671-10G>T
NM_001178129.2:c.491-10G>T	NP_001171600.1:n.491-10G>T